Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Reference
Ref.
Mutation comments
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data
ISTH mutations
99
PSSM
E28
3789G>A
3789
S1263S
1263
Interdomain
Corrales et al. 2012
Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data
ISTH mutations
99
Missense
E28
3797C>T
3797
P1266L
1266
Interdomain
Corrales et al. 2012
Described as Type 1 and 2B. Unknown phase
Clinical Data
ISTH mutations
99
Missense
E21
2771G>A
2771
R924Q
924
D3
Corrales et al. 2012
Described as Type 1 and 2N. Unknown phase